We have updated our terminology

The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.

Please find out more about the update here.

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Search results for FGFR2

Gene symbol	Genotype	Mutation consequence	Disease	Panels
FGFR2	monoallelic_autosomal	altered gene product structure	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME	DD
FGFR2	monoallelic_autosomal	altered gene product structure	ANTLEY-BIXLER SYNDROME	DD
FGFR2	monoallelic_autosomal	altered gene product structure	JACKSON-WEISS SYNDROME	DD,Skin
FGFR2	monoallelic_autosomal	altered gene product structure	BEARE-STEVENSON CUTIS GYRATA SYNDROME	DD,Skin
FGFR2	monoallelic_autosomal	altered gene product structure	APERT SYNDROME	DD,Skin
FGFR2	monoallelic_autosomal	altered gene product structure	CROUZON SYNDROME	DD,Skin
FGFR2	monoallelic_autosomal	altered gene product structure	ACROCEPHALOSYNDACTYLY TYPE V	DD,Skin
FGFR2	mitochondrial	uncertain	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME	Eye
FGFR2	monoallelic_autosomal	altered gene product structure	Cutis gyrata Beare stevenson	Skin
FGFR2	monoallelic_autosomal	uncertain	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME	Skin